A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2004n152



Internal ID22817707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114760901..114766500hg38UCSC Ensembl
chr12:115198706..115204305hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213641, nsv3211894
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2004n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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